Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.
M J MackenbachEline A J WillemseJan J A van den DorpelNadine A M E van der BeekJordi Díaz-ManeraD RizopoulosCharlotte E TeunissenAns T van der PloegJohanna M P van den HoutPublished in: Neurology (2023)
We found significant differences in NfL levels between patients and controls, and a good association between NfL and cognition. NfL deserves further exploration as a biomarker for CNS involvement in patients with classic infantile Pompe disease.